Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).
Hol
F A
FA
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Geurds
M P
MP
Cremers
C W
CW
Hamel
B C
BC
Mariman
E C
EC
D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D001665:Binding Sites; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005973:Glutamine; D006801:Humans; D007231:Infant, Newborn; D008715:Methionine; D009154:Mutation; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D014157:Transcription Factors; D014633:Valine; D014849:Waardenburg Syndrome / Q000235:genetics* / Q000473:pathology
D018388:Codon, Terminator; D004268:DNA-Binding Proteins; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; D005973:Glutamine; C068686:Pax3 protein, mouse; D004247:DNA; D008715:Methionine; D014633:Valine